G113R (p.Gly113Arg) variant of PLAT (P00750)
G113R (p.Gly113Arg) in PLAT (P00750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
G113R (p.Gly113Arg) variant details
- p.Gly113Arg
- ExAC rs781218495
- gnomAD rs781218495
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- REVEL 0.79
- CADD 24.60
- PolyPhen-2 0.66
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available